Survey Results Confirm Mental and Emotional Burden of FCS

At the National Lipid Association (NLA) Scientific Sessions in Las Vegas, NV this morning, Akcea Therapeutics, an affiliate of Ionis Pharmaceuticals, presented a poster with data from the largest burden of illness study in patients with familial chylomicronemia syndrome (FCS) to date.

The findings, which fill a major gap as it pertains to what is known and unknown in the indication, concluded that patients face many comorbidities associates with FCS, the most serious of which is pancreatitis.

FCS is a rare metabolic disorder characterized by severe chylomicronemia, resulting in increased levels of serum triglycerides (TGs) and subsequent risk of recurrent and acute, life-threatening, pancreatitis. It is caused by a deficiency in the production or functionality of the enzyme responsible for breaking down plasma TGs. lipoprotein lipase (LPL). Patients with FCS frequently present with a variety of symptoms due to these severely high TG levels, including: intense abdominal pain, nausea and vomiting, and fatigue.

At present, the only available option for patients who are looking to manage these symptoms is to follow an exceptionally restrictive low-fat diet (≤20 g daily), limit simple carbohydrates and abstain from alcohol, and even with this strict adherence, TGs have been shown to remain high, resulting in patients remaining at risk of acute pancreatitis.

While the acute clinical manifestations of FCS have been well documented, cognitive and psychosocial effects have not been historically described or even understood. The poster, “Examining the high disease burden and impact on quality of life in familial chylomicronemia syndrome,” focused on results from The Investigation of Findings and Observations Captured in Burden of Illness Survey in FCS Patients (IN-FOCUS), a multinational web-based survey conducted to characterize and quantify the burden of illness associated with FCS across all possible dimensions from the patient’s perspective.¹

The IN-FOCUS study, conducted by Michael Davidson, MD of the University of Chicago School of Medicine and colleagues, was a self-reported, online, anonymous quantitative research survey that took participants approximately 45 mins to complete. It was conducted among 166 patients diagnosed with FCS.

It was found in the survey that FCS patients not only seek to restrict fat from their diets, but engage in other, additional methods in an attempt to reduce TGs and potential symptoms like pancreatitis. On average, patients reported using 6 different approaches to reduce plasma TGs.

It has always been assumed that maintaining strict fat levels can be challenging. In the survey, 93% of respondents confirmed. While dietary adherence is obviously constricting, it can also affect patients’ mental and emotional health. 76% of strongly agree that they make extreme dietary restrictions to control their FCS symptoms, and strongly agree that they experienced food cravings and have trouble focusing due to the restricted diet.

Further, 74% of respondents felt scared or anxious if they exceeded the permitted daily level of fat intake, and 73% reported spending considerable time choosing and preparing meals because of their diagnosis. Respectively, 70%, 81%, and 71% of respondents find managing symptoms extremely energy draining, time consuming, and rigid and prohibitive.

Despite rigorous adherence to the recommended diet, 53% of respondents still experienced symptoms associated with FCS.

Socially, respondents reported that they felt restricted because of their FCS; most reported that FCS affects multiple aspects of their social life and relationships. Only 23% of patients reported full-time employment, with 65% of unemployed patients reporting it was largely due to FCS. Additionally, it was reported that FCS can negatively affect patients’ stress and anxiety levels, mental ability, and feeling of self-worth.

These survey results maintain the belief that the burden of FCS goes far beyond physical symptoms and impacts patients’ mental and emotional well-being and even professional endeavors.

For more from the NLA Sessions, follow Rare Disease Report on Facebook and Twitter.

References:

Davidson M, et al. Examining the high disease burden and impact on quality of life in familial chylomicronemia syndrome. Presented at: 2018 National Lipid Association (NLA) Scientific Sessions; April 26-29, 2018; Las Vegas, Nevada.